Abstract
ContextCirculating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to cytomorphology. Clear cell renal cell carcinomas frequently bear a mutated Von Hippel-Lindau (VHL) gene.AimTo match blind genetic analysis of CRC and tumor samples with CRC cytopathological diagnosis.Results29/30 patients harboured CRC (20 harboured CCC, 29 CRC-UMF) and 25/29 patients carried VHL mutations in their tumour. 205 single CRC (64 CCC, 141 CRC-UMF) provided genetic data. 57/57 CCC and 104/125 CRC-UMF from the 25 patients with VHL-mutated tumor carried the same VHL mutation detected in the tumor. Seven CCC and 16 CRC-UMF did not carry VHL mutations but were found in patients with wild-type VHL tumor tissue.ConclusionsAll the CCC and 83,2% (104/125) of the CRC-UMF were found to carry the same VHL mutation identified in the corresponding tumorous tissue, validating cytopathological identification of CCC in patients with clear cell renal cell carcinoma.MethodsThe blood of 30 patients with clear cell renal cell carcinoma was treated by ISET® for CRC isolation, cytopathology and single-cell VHL mutations analysis, performed blindly and compared to VHL mutations of corresponding tumor tissues and leukocytes.
Highlights
Circulating Rare Cells (CRC) are rare and heterogeneous cells circulating in blood and deriving from organs [1]
All the Cancer Cells (CCC) and 83,2% (104/125) of the CRC with uncertain malignant features (CRC-UMF) were found to carry the same Von Hippel-Lindau (VHL) mutation identified in the corresponding tumorous tissue, validating cytopathological identification of CCC in patients with clear cell renal cell carcinoma
Tumor tissue DeoxyriboNucleic Acid (DNA) analyses from the 30 patients included in this study revealed that four patients (13.3%) had no detectable VHL mutations in their tumor samples (Table 1)
Summary
Circulating Rare Cells (CRC) are rare and heterogeneous cells circulating in blood and deriving from organs [1] They include circulating tumors cells (CTC) [2] as well as non-tumorous, non-haematological cells, mainly of epithelial or endothelial origin, to be distinguished from cancer cells. Isolation by SizE of Tumor/ Trophoblastic cells (ISET®) is a sensitive marker-independent technology that relies on the fact that blood cells are the smallest cells in the body and takes advantage from the larger size of CRC, including all types of cancer cells derived from solid cancers. CRC are retained on a filter, while erythrocytes are lysed and the majority of leucocytes are lost through the 8 micron pores [9] This permits a very sensitive isolation of CRC from blood, without marker-related bias, keeping them intact, thereby allowing their cytopathological diagnosis, and further immunomorphological and molecular analysis. The superior sensitivity of ISET® has been demonstrated by independent studies both in vitro [5, 10,11,12] and in vivo [13], including in comparative tests (reviewed in [14])
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
